Raising a child with a severe genetic condition is tough. Continuing that fight every day – when you have already lost one child to the same disease – is unbearable.

“I have no idea how we got through it,’’ said Julie Gravina.

It was 2015 when Julie gave birth to beautiful twins Charlize and Isaac. She was concerned about the health of Charlize but was reassured that her daughter was just “quieter than her brother’’.
 
“We got home on day four, she was a bit quiet, a bit cool,’’ Julie said. “In the early hours of the morning I fed Isaac, but Charlize…. was cold and grey. She wasn’t moving. That’s when I knew. I thought she was dying.  I had this sinking feeling, she was dying and that’s what was happening.’’

Once they got to hospital, Isaac also took a turn for the worst and no one could tell the Gravina family what was wrong with their newborn twins.

“The next day, newborn screening results came in. It confirmed they had a severe metabolic disorder. The diagnosis was Propionic Acidemia.’’

Propionic Acidemia is a rare metabolic disorder that causes a buildup of acids in the blood, urine and tissues, which is toxic to the body’s organs.

“It was hard hearing the diagnosis, because the outcomes were very poor. And the management was very difficult. It was explained they would need constant feeding day and night. They couldn’t run out of energy; if they do, they break down muscle and that’s protein. Protein is like poison to their body. When they have too much protein, their body would, basically, end up with large amounts of dangerous toxins, which very quickly can give them brain damage.’’
 
Isaac received sudden brain damage at nine months old. Doctors immediately told the Gravinas that both Isaac, and Charlize, should have a liver transplant.

“I was shocked he said for both children,” Julie said. “He said Charlize was also at risk of having sudden brain damage just like Isaac.’’

Six weeks post-transplant, Isaac was discharged from hospital.

“After Isaac received his new liver he was on top of the world. He was learning at lightning speed and loving his new life.’’

He was only home for one month before he got septic shock and tragically died.

“It was very hard for our family, grieving the loss of Isaac but also having to concentrate on Charlize.
 
“They said Charlize was like a ticking time bomb. It was a really hard decision, after we lost Isaac, to decide to transplant Charlize. It was only that her disorder was so severe.’’

Charlize has now had two liver transplants, after her body rejected her first one. The family donated her liver cells to Children’s Medical Research Institute for gene therapy research.

“I hope in Charlize’s lifetime that she will receive better treatments and possibly cures. I think we’re getting there, already we’ve got Charlize’s liver cells in the lab at CMRI. We’ve given Charlize’s liver cells to CMRI and Professor Ian Alexander and his team are working on gene therapy for Propionic Acidemia right now, and I think that is just so exciting, given the diagnosis that our children were given, and the outcomes, it’s more than you could ever wish for.’’
 
Learn more about Propionic acidemia here You can help kids like Charlize right now by becoming a fundraiserdonatingvolunteering or supporting friends who have signed up.
 

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